Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes

scientific journal article

Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/CM.10090
P698PubMed publication ID12529857

P50authorMichael W. KlymkowskyQ41843146
Leslie LeinwandQ29447012
P2093author name stringHarald Herrmann
Stephen J Langer
Kurt Haubold
Robert M Evans
P2860cites workHuman synemin gene generates splice variants encoding two distinct intermediate filament proteinsQ24291974
Identification of a nonapeptide motif in the vimentin head domain involved in intermediate filament assemblyQ41640299
Desmin/vimentin intermediate filaments are dispensable for many aspects of myogenesisQ41666693
Characterization of the mouse beta maj globin transcription termination region: a spacing sequence is required between the poly(A) signal sequence and multiple downstream termination elementsQ41817304
Effects of desmin gene knockout on mice heart mitochondriaQ43800794
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formationQ47915173
Mechanical alterations in smooth muscle from mice lacking desmin.Q47945850
Intermediate filaments in cardiac myogenesis: nestin in the developing mouse heartQ48071897
Cardiovascular lesions and skeletal myopathy in mice lacking desmin.Q51114742
Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton.Q52168891
Null mutation in the desmin gene gives rise to a cardiomyopathy.Q52526996
Mouse model of desmin-related cardiomyopathy.Q52543008
Differentiation of rat myocytes in single cell cultures with and without proliferating nonmyocardial cells. Cross-striations, ultrastructure, and chronotropic response to isoproterenolQ70265337
Desmin integrates the three-dimensional mechanical properties of musclesQ73308074
Localizing the adhesive and signaling functions of plakoglobinQ73326792
Synemin may function to directly link muscle cell intermediate filaments to both myofibrillar Z-lines and costameresQ74064872
Differences in the distribution of synemin, paranemin, and plectin in skeletal muscles of wild-type and desmin knock-out miceQ74226401
Characterization of distinct early assembly units of different intermediate filament proteinsQ74579943
A dysfunctional desmin mutation in a patient with severe generalized myopathyQ24313070
Missense mutations in desmin associated with familial cardiac and skeletal myopathyQ24322607
Immunological characterization of the subunit of the 100 A filaments from muscle cellsQ24561559
A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactionsQ24597783
Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscleQ24678638
Use of T7 RNA polymerase to direct expression of cloned genesQ27860692
Isolation of monoclonal antibodies specific for human c-myc proto-oncogene productQ27860841
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratodermaQ28143046
Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton functionQ28285508
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophyQ28294894
The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.Q30323290
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobinQ33147005
Intermediate filaments and their associates: multi-talented structural elements specifying cytoarchitecture and cytodynamicsQ33840313
Desmin mutation responsible for idiopathic dilated cardiomyopathyQ33869740
The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic functionQ33883081
Disruption of muscle architecture and myocardial degeneration in mice lacking desminQ34395897
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysesQ34591440
Desmin splice variants causing cardiac and skeletal myopathyQ35433637
Transgenic expression of the muscle-specific intermediate filament protein desmin in nonmuscle cellsQ36219897
Myogenesis in the mouse embryo: differential onset of expression of myogenic proteins and the involvement of titin in myofibril assemblyQ36221341
A nontetrameric species is the major soluble form of keratin in Xenopus oocytes and rabbit reticulocyte lysatesQ36236444
Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.Q36273863
Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function.Q36293799
Differential organization of desmin and vimentin in muscle is due to differences in their head domains.Q36382852
Quantitative determination of adenovirus-mediated gene delivery to rat cardiac myocytes in vitro and in vivo.Q36709994
Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like functionQ37198800
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophyQ37361311
Intermediate filaments in diseaseQ40400819
Desmin-related neuromuscular disordersQ40416518
Structural and functional analysis of a new desmin variant causing desmin-related myopathyQ40773437
Chaperone activity of alpha-crystallins modulates intermediate filament assembly.Q40790972
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin geneQ40893835
Molecular characteristics and interactions of the intermediate filament protein synemin. Interactions with alpha-actinin may anchor synemin-containing heterofilamentsQ40925700
Structure and assembly properties of the intermediate filament protein vimentin: the role of its head, rod and tail domainsQ41144453
P433issue2
P921main subjectcytoskeletonQ154626
P304page(s)105-121
P577publication date2003-02-01
P1433published inCytoskeletonQ2196987
P1476titleAcute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes
P478volume54

Reverse relations

cites work (P2860)
Q43184436A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.
Q37299072Designing heart performance by gene transfer.
Q39837470Interference of amino-terminal desmin fragments with desmin filament formation
Q34075709Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages
Q36908708Splice site, frameshift, and chimeric GFAP mutations in Alexander disease

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